Variant report

Variant	rs72633650
Chromosome Location	chr1:154360838-154360839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154323094..154325358-chr1:154357953..154361791,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11579718	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11580535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582433	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11590203	0.80[EUR][1000 genomes]
rs1889313	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56264602	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56807273	0.84[EUR][1000 genomes]
rs57100877	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59356432	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60412881	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60682501	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60767732	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6686467	0.80[EUR][1000 genomes]
rs6698881	0.80[EUR][1000 genomes]
rs72633645	0.80[EUR][1000 genomes]
rs72633646	0.80[EUR][1000 genomes]
rs72633647	0.80[EUR][1000 genomes]
rs9803896	0.85[EUR][1000 genomes]
rs9803950	0.89[EUR][1000 genomes]
rs9804073	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154358400-154362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:154358400-154363600	Weak transcription	Esophagus	oesophagus
3	chr1:154358600-154363400	Weak transcription	NHEK	skin
4	chr1:154358600-154363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:154358600-154364000	Weak transcription	Hela-S3	cervix
6	chr1:154359600-154361000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:154359600-154363600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:154359600-154363800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:154359600-154364000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:154360000-154361600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:154360400-154370000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:154360800-154364200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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